Summariesfor ALAS1 gene

This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin)

biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the

enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high

levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of

this gene is located on chromosome 12. Multiple alternatively spliced variants, encoding the same protein, have

been identified. (provided by RefSeq, Dec 2011)

GeneCards Summary for ALAS1 Gene:

ALAS1 (aminolevulinate, delta-, synthase 1) is a protein-coding gene. Diseases associated with ALAS1 include x-linked sideroblastic anemia, and acute porphyria. GO annotations related to this gene include 5-aminolevulinate synthase activity and pyridoxal phosphate binding. An important paralog of this gene is GCAT.